thyroid hormone resistance, generalized, autosomal recessive

Go to external page http://purl.obolibrary.org/obo/MONDO_0010131


A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. [ NCIT:C85191 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare

abbreviation
THRB [ GARD:0000301 ]

abbreviation
GRTH [ GARD:0000301 MONDO:Lexical https://omim.org/entry/274300 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C2940786

http://linkedlifedata.com/resource/umls/id/C0242604

http://linkedlifedata.com/resource/umls/id/C3489796

definition

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

exactMatch

http://identifiers.org/omim/274300

http://purl.obolibrary.org/obo/NCIT_C85191

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019589

has exact synonym

thyroid hormone Resistance

thyroid hormone resistance, generalized, autosomal recessive

thyroid hormone Resistance syndrome

has related synonym

thyroid hormone unresponsiveness

THRB

Gthr

Refetoff syndrome

thyroid hormone receptor BETA

GRTH

id

MONDO:0010131